Incidental Mutation 'IGL01086:Aim2'
| ID |
50225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aim2
|
| Ensembl Gene |
ENSMUSG00000037860 |
| Gene Name |
absent in melanoma 2 |
| Synonyms |
Ifi210, LOC383619 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173178445-173293606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173282999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 27
(Y27C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147604]
[ENSMUST00000151176]
[ENSMUST00000166137]
[ENSMUST00000173023]
|
| AlphaFold |
Q91VJ1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135370
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147604
AA Change: Y27C
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: Y27C
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
Pfam:HIN
|
156 |
322 |
2e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151176
AA Change: Y27C
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860
AA Change: Y27C
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
79 |
9.28e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166137
AA Change: Y27C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: Y27C
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
Pfam:HIN
|
156 |
321 |
9.4e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173023
AA Change: Y27C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860
AA Change: Y27C
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192575
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased susceptibility to bacterial and viral infections with altered cytokine production and inflammatory cell death (pyrotosis). [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,729 (GRCm39) |
R104S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,308,114 (GRCm39) |
E127G |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,474,066 (GRCm39) |
F1118L |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,347 (GRCm39) |
D940G |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,131,789 (GRCm39) |
V376I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,650 (GRCm39) |
E195G |
probably benign |
Het |
| Coro6 |
C |
A |
11: 77,357,374 (GRCm39) |
C194* |
probably null |
Het |
| Crebbp |
T |
C |
16: 3,997,416 (GRCm39) |
M223V |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,116,857 (GRCm39) |
C157S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,579,611 (GRCm39) |
L3048S |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,613,960 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,688 (GRCm39) |
Y732C |
probably damaging |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,707 (GRCm39) |
I7V |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,788,488 (GRCm39) |
F216S |
probably damaging |
Het |
| Lcn6 |
T |
C |
2: 25,570,792 (GRCm39) |
F61L |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,871 (GRCm39) |
|
probably benign |
Het |
| Or5w18 |
T |
A |
2: 87,633,544 (GRCm39) |
Y266* |
probably null |
Het |
| Otof |
C |
T |
5: 30,533,617 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
T |
C |
1: 133,019,356 (GRCm39) |
C1035R |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,227,984 (GRCm39) |
N298D |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,963,648 (GRCm39) |
|
probably benign |
Het |
| Pwp1 |
T |
C |
10: 85,715,757 (GRCm39) |
|
probably null |
Het |
| Scel |
A |
G |
14: 103,849,827 (GRCm39) |
I631V |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,300,503 (GRCm39) |
M1288L |
probably benign |
Het |
| Serpina11 |
T |
A |
12: 103,952,329 (GRCm39) |
D147V |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,311 (GRCm39) |
C1266S |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,216 (GRCm39) |
V117A |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,370,541 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
A |
T |
11: 115,681,110 (GRCm39) |
T158S |
probably benign |
Het |
| Tomm40l |
T |
C |
1: 171,047,878 (GRCm39) |
|
probably null |
Het |
| Traf6 |
A |
G |
2: 101,515,128 (GRCm39) |
I95V |
probably benign |
Het |
| Ttc13 |
A |
G |
8: 125,402,085 (GRCm39) |
I686T |
probably damaging |
Het |
| Zmat2 |
C |
T |
18: 36,929,163 (GRCm39) |
H104Y |
probably damaging |
Het |
|
| Other mutations in Aim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Aim2
|
APN |
1 |
173,283,031 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02292:Aim2
|
APN |
1 |
173,289,840 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02382:Aim2
|
APN |
1 |
173,287,315 (GRCm39) |
splice site |
probably null |
|
|
R0226:Aim2
|
UTSW |
1 |
173,289,899 (GRCm39) |
unclassified |
probably benign |
|
|
R0609:Aim2
|
UTSW |
1 |
173,289,530 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1281:Aim2
|
UTSW |
1 |
173,287,377 (GRCm39) |
nonsense |
probably null |
|
|
R2054:Aim2
|
UTSW |
1 |
173,291,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Aim2
|
UTSW |
1 |
173,287,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4080:Aim2
|
UTSW |
1 |
173,287,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4081:Aim2
|
UTSW |
1 |
173,287,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4082:Aim2
|
UTSW |
1 |
173,287,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4452:Aim2
|
UTSW |
1 |
173,283,010 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4647:Aim2
|
UTSW |
1 |
173,283,090 (GRCm39) |
synonymous |
silent |
|
|
R4731:Aim2
|
UTSW |
1 |
173,291,442 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4732:Aim2
|
UTSW |
1 |
173,291,442 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4733:Aim2
|
UTSW |
1 |
173,291,442 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4923:Aim2
|
UTSW |
1 |
173,287,372 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5009:Aim2
|
UTSW |
1 |
173,282,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6290:Aim2
|
UTSW |
1 |
173,289,681 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6372:Aim2
|
UTSW |
1 |
173,282,802 (GRCm39) |
splice site |
probably null |
|
|
R6821:Aim2
|
UTSW |
1 |
173,291,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6836:Aim2
|
UTSW |
1 |
173,291,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Aim2
|
UTSW |
1 |
173,291,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Aim2
|
UTSW |
1 |
173,283,152 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7893:Aim2
|
UTSW |
1 |
173,291,492 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8175:Aim2
|
UTSW |
1 |
173,282,920 (GRCm39) |
start codon destroyed |
possibly damaging |
0.75 |
|
R8459:Aim2
|
UTSW |
1 |
173,289,536 (GRCm39) |
unclassified |
probably benign |
|
|
R8680:Aim2
|
UTSW |
1 |
173,289,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Aim2
|
UTSW |
1 |
173,291,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation